Neurology / Neuropediatrics
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Propionic Acidemia (NGS panel of 5 genes)
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Propionic acidemia (sequence analysis of PCCB gene)
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Prosaposin deficiency | Gaucher disease, atypical | Krabbe disease, atypical | Metachromatic leukodystrophy (deletion/duplication analysis of PSAP gene)
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Prosaposin deficiency | Gaucher disease, atypical | Krabbe disease, atypical | Metachromatic leukodystrophy (sequence analysis of PSAP gene)
+ info
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Proteus syndrome (frequent somatic mutation, p.Glu17Lys on AKT1 gene)
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Psychomotor development delay (various syndromes, deletion/duplication analysis)
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Pyridoxamine 5'-phosphate oxidase deficiency (deletion/duplication analysis on PNPO gene)
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Pyridoxamine 5'-phosphate oxidase deficiency (sequence analysis of PNPO gene)
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Pyruvate carboxylase deficiency (deletion/duplication analysis on PC gene)
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Pyruvate carboxylase deficiency (NGS panel of 6 genes)
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Pyruvate carboxylase deficiency (sequence analysis of PC gene)
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Pyruvate carboxylase deficiency (WES based NGS panel of 25 genes, including CNV analysis)
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Pyruvate dehydrogenase E1-alpha deficiency (deletion/duplication analysis on PDHA1 gene)
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Pyruvate dehydrogenase E1-alpha deficiency (sequence analysis of PDHA1 gene)
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Pyruvate dehydrogenase E1-beta deficiency (sequence analysis of PDHB gene)
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Pyruvate dehydrogenase E2 deficiency (sequence analysis of DLAT gene)
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Pyruvate dehydrogenase phosphatase deficiency (sequence analysis of PDP1 gene)
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Reanalysis and interpretation of Disease Exome (realignment and reanalysis of variants)
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Reanalysis and interpretation of NGS panels (realignment and reanalysis of variants)
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Reanalysis and interpretation of WES (realignment and reanalysis of variants)
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